Canonical Allele Identifier: CA360802606

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1707645
• ClinVar RCV Id: RCV002286624
• dbSNP Id: rs778137386
• gnomAD v2: 5-131705881-G-A
• gnomAD v4: 5-132370189-G-A
• MyVariant Identifiers: chr5:g.131705881G>A (hg19) ; chr5:g.132370189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370189G>A , CM000667.2:g.132370189G>A	GRCh38
NC_000005.9:g.131705881G>A , CM000667.1:g.131705881G>A	GRCh37
NC_000005.8:g.131733780G>A	NCBI36
NG_008982.1:g.5481G>A
NG_008982.2:g.5486G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.217G>A	ENSP00000388838.2:p.Asp73Asn
ENST00000435065.7:c.217G>A	ENSP00000402760.2:p.Asp73Asn
ENST00000448810.6:c.217G>A	ENSP00000401860.2:p.Asp73Asn
ENST00000686757.1:c.217G>A	ENSP00000510721.1:p.Asp73Asn
ENST00000687740.1:n.351G>A
ENST00000689271.1:c.217G>A	ENSP00000510797.1:p.Asp73Asn
ENST00000690900.1:c.217G>A	ENSP00000510703.1:p.Asp73Asn
ENST00000692413.1:c.217G>A	ENSP00000509374.1:p.Asp73Asn
ENST00000692825.1:c.217G>A	ENSP00000509447.1:p.Asp73Asn
ENST00000693308.1:c.217G>A	ENSP00000509770.1:p.Asp73Asn
ENST00000693763.1:n.351G>A
ENST00000245407.8:c.217G>A MANE Select	ENSP00000245407.3:p.Asp73Asn
ENST00000245407.7:c.217G>A	ENSP00000245407.3:p.Asp73Asn
ENST00000435065.6:c.217G>A	ENSP00000402760.2:p.Asp73Asn
ENST00000437841.6:c.217G>A	ENSP00000400553.1:p.Asp73Asn
NM_001308122.1:c.217G>A	NP_001295051.1:p.Asp73Asn
NM_003060.3:c.217G>A	NP_003051.1:p.Asp73Asn
XR_427718.1:n.486G>A
XR_948290.1:n.486G>A
XR_948291.1:n.486G>A
XM_011543590.2:c.-415G>A	XP_011541892.1:n.-415G>A
XR_001742215.1:n.486G>A
XR_001742216.1:n.486G>A
XR_427718.2:n.486G>A
XR_948290.2:n.486G>A
XR_948291.2:n.486G>A
NM_003060.4:c.217G>A MANE Select	NP_003051.1:p.Asp73Asn
NM_001308122.2:c.217G>A	NP_001295051.1:p.Asp73Asn